Arrhythmogenic right ventricular dysplasia ARVD is a disorder which is characterized by replacement of right ventricular myocardium by fat and fibrous tissue. Although it generally causes arrhythmias originating from the right ventricle, sudden deaths might be seen. A 30-year-old woman with no previous symptoms of a particular disorder was found dead in her house. The organs of her body were sent to the pathology department after the autopsy was carried out by the Department of Forensic Medicine of Adnan Menderes University, Aydin, Turkey. Grossly, the heart weight was within the normal limits. Nonetheless, it was detected that the right ventricle wall was thinned remarkably and had yellow color. In the microscopic examination, it was observed that myocardium was replaced mostly by fat and fibrous tissue. The other sections of heart were normal. This lesion was diagnosed as ARVD and suggested as the cause of death.
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Naxos disease is a rare autosomal recessive condition combining arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. The first identified causative variant was in the gene encoding the desmosomal protein plakoglobin. Naxos disease exhibits fibro-fatty myocardial replacement with immunohistological abnormalities in cardiac protein and signaling pathways, highlighting the role of inflammation and potential anti-inflammatory treatments.
View Article and Find Full Text PDFArrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable myocardial condition that mostly affects the right ventricle (RV). Atrial involvement is poorly understood and the evidence for atrial involvement remains limited. In this case report, we describe an 18-year-old woman who had ARVC with the atrial tachyarrhythmia and initially presented with palpitations.
View Article and Find Full Text PDFCJC Open
January 2025
Population Health Research Institute, Hamilton, Ontario, Canada.
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is typically diagnosed following an arrhythmic event or during screening after a family member experiences sudden cardiac death. Implantation of a defibrillator (ICD) improves survival but can be associated with morbidity and risks, an important consideration within a shared decision-making context. This study examined patient decisional needs and preferences surrounding ARVC screening and prophylactic ICD implantation.
View Article and Find Full Text PDFJ Clin Ultrasound
January 2025
Department of Gastroenterology, The Second Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is the classic phenotype of arrhythmogenic cardiomyopathy. ARVC in twins have been reported rarely. Herein, we report an unusual case of young monozygotic twins with early disease onset presenting different course of disease progression and clinical manifestations.
View Article and Find Full Text PDFJ Community Hosp Intern Med Perspect
January 2025
Corewell Health South, Saint Joseph, MI, USA.
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a right ventricular disease caused by desmosomal gene mutations leading to fibro-fatty replacement of the myocardium causing ventricular arrhythmias such as ventricular tachycardia (VT). A 59-year-old female presented with new onset VT manifesting as shortness of breath and chest discomfort. Diagnostic workup revealed right ventricular dilation/dysfunction on echocardiogram, VT with left bundle branch block (LBBB) and diffuse T wave inversions (TWIs) on EKG.
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